Charcot-Marie-Tooth disease type 2E

Term ID

DOID:0110165

Synonyms

• autosomal dominant Charcot-Marie-Tooth disease type 2E
• Charcot-Marie-Tooth neuropathy type 2E
• CMT2E

Definition

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21. (2)

References

• ICD10CM:G60.0
• OMIM:607684
• ORDO:99939

Ontology

Human Disease   ( DOID:0110165 )